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rs201728948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201728948(C;T)
Make rs201728948(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48570639
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs201728948
dbSNP (old)rs201728948
ClinGenrs201728948
ebirs201728948
HLIrs201728948
Exacrs201728948
Gnomadrs201728948
Varsomers201728948
LitVarrs201728948
Maprs201728948
PheGenIrs201728948
Biobankrs201728948
1000 genomesrs201728948
hgdprs201728948
ensemblrs201728948
gopubmedrs201728948
geneviewrs201728948
scholarrs201728948
googlers201728948
pharmgkbrs201728948
gwascentralrs201728948
openSNPrs201728948
23andMers201728948
23andMe allrs201728948
SNPshotrs201728948
SNPdbers201728948
MSV3drs201728948
GWAS Ctlgrs201728948
Max Magnitude0
ClinVar
Risk rs201728948(T;T)
Alt rs201728948(T;T)
Reference Rs201728948(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.48608072C>T
CLNSRC
CLNACC RCV000414113.1,